The UVSSA gene, also known as the UV-sensitive syndrome associated gene, is an important gene associated with UV sensitivity and related diseases. It is included in various genetic databases and is listed under different names depending on the scientific source. It plays a crucial role in protecting cells from the harmful effects of UV rays.
This gene is considered significant in the context of UV radiation exposure, as mutations or changes in the UVSSA gene can result in UV-sensitive syndrome. UV-sensitive syndrome is a rare genetic disorder characterized by sensitivity to UV rays and an increased risk of developing skin cancer, among other conditions.
The UVSSA gene is extensively studied and has a wide range of references in scientific articles, including the PubMed database. It is mentioned in numerous health-related publications, offering valuable information on the gene’s function and its association with UV-related conditions.
For further understanding and testing of UV-sensitive syndrome and related diseases, the UVSSA gene is included in genetic catalogs such as OMIM and Genet. These resources provide additional information, including variant names, related genes, and references for further research.
Health Conditions Related to Genetic Changes
Genetic changes in UVSSA gene can be associated with several health conditions. If a person presents with symptoms related to UV-sensitive syndrome, additional tests may be conducted to determine if there are genetic changes in the UVSSA gene.
The UV-sensitive syndrome is a rare autosomal recessive disorder that affects the skin and eyes. It is characterized by sensitivity to ultraviolet (UV) rays, which can lead to severe sunburns and an increased risk of developing skin cancer. Individuals with UV-sensitive syndrome may also have other health conditions related to this genetic change.
Testing for genetic changes in the UVSSA gene can be done through various resources. One of the commonly used databases for genetic information is OMIM (Online Mendelian Inheritance in Man) which provides detailed information on specific genes and associated health conditions.
PubMed is another resource that can provide references to scientific articles related to UVSSA gene and its variants. These articles can provide additional information on the health conditions related to this genetic change.
The Genetic Testing Registry (GTR) is another valuable resource for information on genetic testing. It provides a catalog of tests available for various diseases, including those listed for UVSSA gene.
When conducting genetic testing, it is important to consider the family history, symptoms, and other clinical information to ensure accurate diagnosis. Genetic counseling may also be recommended to provide individuals and families with additional support and information.
| Resources | Description |
|---|---|
| OMIM | An online database that provides comprehensive information on genetic disorders |
| PubMed | A database of scientific articles and references on various topics, including genetics |
| Genetic Testing Registry (GTR) | A catalog of tests available for genetic diseases |
By utilizing these resources, healthcare professionals can gather information on the health conditions related to genetic changes in the UVSSA gene and provide appropriate care and treatment to affected individuals.
UV-sensitive syndrome
UV-sensitive syndrome is a genetic condition characterized by an increased sensitivity to ultraviolet (UV) rays. It is caused by changes (mutations) in the UVSSA gene.
The UVSSA gene provides instructions for making a protein that is involved in the repair of DNA damage caused by UV radiation. Mutations in this gene disrupt the normal function of the protein, leading to an impaired ability to repair UV-induced DNA damage.
Symptoms of UV-sensitive syndrome can include severe sunburns, blistering, and increased risk of skin cancer, as well as eye abnormalities and developmental delays in some cases.
Diagnosis of UV-sensitive syndrome is typically done through genetic testing. Tests for the UVSSA gene variant can confirm the diagnosis and help determine the specific genetic changes involved.
Treatment for UV-sensitive syndrome focuses on managing the symptoms and reducing exposure to UV radiation. This may involve protective clothing, sunscreen, and avoiding midday sun.
For more information on UV-sensitive syndrome, you can refer to the following resources:
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on UV-sensitive syndrome, including genetic changes and associated symptoms.
- Pubmed: The Pubmed database contains scientific articles and research papers on UV-sensitive syndrome, which can provide further insights and information on the condition.
- Genes and Diseases: The Genes and Diseases database offers a catalog of genes associated with various diseases, including UV-sensitive syndrome.
- UVSSA Registry: The UVSSA Registry provides a centralized repository of information on UV-sensitive syndrome, including references to published articles and resources related to the condition.
Overall, UV-sensitive syndrome is a rare genetic condition that results in increased sensitivity to UV rays and can have significant health impacts. Genetic testing and resources like OMIM and Pubmed can provide valuable information for diagnosis, management, and ongoing research on UV-sensitive syndrome.
Other Names for This Gene
The UVSSA gene is also known by the following names:
- Gene Names: UVSSA, UV Stimulated Scaffold Protein A
- Scientific Names: UVSSA DNA damage bypass, DNA repair protein UVSSA
- Diseases: UV-sensitive syndrome
The UVSSA gene is referenced in various resources including:
- OMIM
- The UVSSA gene is associated with UV-sensitive syndrome.
- The UVSSA gene is listed in the Genetic Testing Registry, which provides information on genetic tests for this gene.
- The UVSSA gene is related to conditions such as UV-sensitive syndrome.
- Additional information on the UVSSA gene can be found in articles on PubMed.
Variant genes related to UVSSA include:
- Genes: UVSSA and other related genes
- Health databases contain information on this gene and other related genes.
- The UVSSA gene is associated with UV-sensitive syndrome.
- OMIM is a valuable resource for information on the UVSSA gene and related genes.
In conclusion, the UVSSA gene, also known as UV Stimulated Scaffold Protein A, is associated with UV-sensitive syndrome and is referred to by various names in scientific literature, databases, and health resources.
Additional Information Resources
For additional information about the UVSSA gene and related conditions, you can refer to the following resources:
-
OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of human genes and genetic diseases. The UVSSA gene and associated UV-Sensitive Syndrome are listed in OMIM, along with references to scientific articles and other resources.
-
PubMed: PubMed is a database of scientific articles in the field of medicine and related disciplines. You can find articles on UVSSA gene testing, UV-Sensitive Syndrome, and related conditions by conducting a search using the relevant keywords.
-
Genetic Testing Registry: The Genetic Testing Registry (GTR) provides information about genetic tests available for various conditions. You can search for tests related to the UVSSA gene and UV-Sensitive Syndrome on the GTR website.
These resources can provide you with further information on the UVSSA gene, genetic testing options, and related conditions. It is important to consult reliable and reputable sources when seeking information on this topic.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a resource that provides a catalog of genetic tests currently available for a variety of diseases and conditions. The UVSSA gene is one of the genes listed in this registry.
The UVSSA gene is responsible for UV-sensitive syndrome, a rare autosomal recessive disorder characterized by extreme sensitivity to UV rays. Changes in the UVSSA gene can lead to this syndrome.
In addition to UVSSA, the GTR lists other genes and genetic tests related to UV-sensitive syndrome. These tests can provide valuable information on the presence of gene variants associated with the syndrome.
Testing for UV-sensitive syndrome and other UVSSA gene-related conditions can be carried out by laboratories that are listed in the GTR. These laboratories perform various scientific tests to identify the presence of specific gene variants.
The GTR also provides additional resources and references, including scientific articles, OMIM database entries, and PubMed references. These resources can help healthcare professionals and researchers to access further information on UVSSA gene-related tests and conditions.
The Genetic Testing Registry offers a comprehensive and up-to-date compilation of tests and information regarding UVSSA gene-related diseases and conditions. By consulting the GTR, healthcare professionals and researchers can access valuable resources to assist in the diagnosis and management of UVSSA gene-related conditions.
Scientific Articles on PubMed
The UVSSA gene is listed in the registry of scientific names for genes and genetic conditions. This gene is related to UV-sensitive syndrome and it tests for UVSSA gene variants. In addition to UVSSA, there are other genes and conditions related to UV sensitivity.
The UVSSA gene can be tested using various genetic testing methods. There are databases and resources available for further information on this gene, including PubMed, OMIM, and other genetic catalog databases.
Scientific articles and references on UVSSA gene variants, UV-sensitive syndrome, and related conditions can be found on PubMed. These articles provide valuable information on the genet and its role in health.
For more information on UVSSA gene testing and related diseases, researchers and medical professionals can refer to the scientific articles, databases, and resources available on PubMed.
Catalog of Genes and Diseases from OMIM
The UVSSA gene, also known as UV-sensitive syndrome associated gene, is associated with various diseases and conditions related to UV radiation sensitivity.
In the catalog of genes and diseases from OMIM, the UVSSA gene is listed as a variant that can cause UV-sensitive syndrome and is associated with other changes in health. This gene is of scientific interest and has additional related references and resources in various databases.
OMIM, or Online Mendelian Inheritance in Man, is a comprehensive database that provides information on genetic disorders and genes. It includes names of genes, diseases, and conditions, as well as information from scientific articles, testing laboratories, and other genetic resources.
The UVSSA gene has been studied in the context of UV radiation sensitivity. Variants in this gene can lead to UV-sensitive syndrome, which is characterized by increased sensitivity to ultraviolet rays. Individuals with UV-sensitive syndrome may experience skin and eye problems when exposed to sunlight.
Genetic testing and genetic counseling may be recommended for individuals with suspected UV-sensitive syndrome or related conditions. Testing can help confirm a diagnosis and provide information on management and treatment options.
The OMIM catalog provides a wealth of information on genes and diseases, including the UVSSA gene. It is a valuable resource for researchers, healthcare professionals, and individuals seeking information on genetic conditions.
References:
- OMIM database: https://www.omim.org/
- PubMed database: https://pubmed.ncbi.nlm.nih.gov/
Gene and Variant Databases
There are several gene and variant databases that provide information on the UVSSA gene and related conditions. These databases can be a valuable resource for finding information on genetic tests, genetic changes, and additional genes that may be involved in UV-sensitive syndrome and other UV-related conditions.
One of the main databases for gene and variant information is PubMed, a public database of scientific articles. PubMed provides a wealth of information on genes, including the UVSSA gene, as well as genetic changes associated with UV-sensitive syndrome and related conditions. It also lists references for further reading on this topic.
Another important database is OMIM, the Online Mendelian Inheritance in Man database. OMIM provides detailed information on genetic diseases, including UV-sensitive syndrome, and associated genes. It also includes information on genetic changes and other names for the gene.
In addition to PubMed and OMIM, there are other gene and variant databases that can provide information on the UVSSA gene and related conditions. These databases may include information on genetic tests, genetic changes, and additional genes that are involved in UV-sensitive syndrome and other UV-related conditions.
One such database is the Genetic Testing Registry (GTR), which provides information on genetic tests and related conditions. GTR includes information on testing for UV-sensitive syndrome and other UV-related conditions, as well as information on the UVSSA gene and other genes that may be involved in these conditions.
Overall, gene and variant databases are important resources for finding information on the UVSSA gene and related conditions. They can provide information on genetic tests, genetic changes, and additional genes that may be involved in UV-sensitive syndrome and other UV-related conditions. Researchers and healthcare professionals can use these databases to access up-to-date information on the UVSSA gene and related conditions, helping to improve understanding and management of these conditions.
References
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides information on UVSSA gene variants and their associated conditions.
- Related Genes: Tests for other genes related to UVSSA and UV-sensitive syndrome can be found on this gene’s OMIM page.
- Scientific Articles: PubMed is a valuable resource for scientific articles on UVSSA gene, UV-sensitive syndrome, and related genetic changes.
- Genetic Testing: Information on available tests for UVSSA gene and associated conditions can be obtained from various genetic testing databases.
- Other Resources: Additional information on UVSSA gene, UV-sensitive syndrome, and related genes can be found in various genetic and health resources.